Extraskeletal osteosarcoma infiltrating pancreas, spleen, gastric, and left kidney: a case report.

BACKGROUND: Extraskeletal osteosarcoma is an extremely rare malignancy that accounts for 1% of soft tissue sarcoma and 4.3% of all osteosarcoma. Extraskeletal osteosarcoma can develop in a patient between the ages of 48 and 60 years. The incidence of extraskeletal osteosarcoma is slightly higher in male patients than in females. CASE PRESENTATION: A 50-year-old Caucasian male patient presented with a 6-month history of intermittent lower-left back pain that limits his activity. Prior ultrasonography and abdominal computed tomography scan showed a diagnosis of kidney stone and tumor in the lower-left abdomen. The computed tomography urography with contrast revealed a mass suspected as a left retroperitoneal malignant tumor. Hence, the tumor was resected through laparotomy and the patient continued with histopathological and immunohistochemistry examination with the result of extraskeletal osteosarcoma. CONCLUSION: Extraskeletal osteosarcoma presents diagnostic challenges requiring multimodal examination, including histological and immunohistochemistry analyses. This case underscores the aggressive nature and poor prognosis despite undergoing the current suggested treatment.

Primary Extraskeletal Falcine Myxoid Chondrosarcoma-A Case Report and Review of Literature.

Intracranial chondrosarcomas are rare malignant lesions. Both skull base and dural-based extraosseous chondrosarcomas have been reported to occur intracranially. Dural-based chondrosarcomas arising from the falx cerebri are rare lesions with only 19 cases reported till date. Although conventional, mesenchymal, and myxoid variants of chondrosarcomas have been reported intracranially, myxoid variant are the rarest with only 17 cases reported till date, among which only 2 were falcine. We are reporting the third case of falcine myxoid chondrosarcoma in a 32-year-old man who presented with seizures and subtle lower limb weakness. Radiological findings were suggestive of an atypical meningioma in the falcine region. Macroscopically total resection of the tumor was done. Histopathological examination confirmed myxoid chondrosarcoma, grade 1. Postoperative period was uneventful, and the patient remains asymptomatic 34 months after the surgery without the application of any adjuvant therapy. Falcine myxoid chondrosarcomas are extremely rare lesions with variable aggressiveness as suggested by the three cases reported till now including the present case.

Extraskeletal Ewing Sarcoma Disguised as a Vascular Malformation.

Extraskeletal Ewing sarcoma (EES) is a rare entity, accounting for only 3% of lesions encountered in upper extremity. We present two paediatric patients, who were initially diagnosed with a vascular malformation based on clinical assessment and imaging. Final histopathology revealed Ewing sarcoma of soft tissue origin, confirmed by immunohistochemical analysis. Hand surgeons, who are routinely approached for a myriad of hand pathologies, should be wary and consider EES as a differential when treating such lesions. A multidisciplinary approach with an appropriate treatment algorithm can help in a speedy diagnosis, improving the long-term prognosis of the disease. Level of Evidence: Level V (Therapeutic).

Ewing Sarcoma of the Larynx with Thyroid Cartilage Destruction: A Case Report.

Ewing sarcoma of the larynx is extremely rare, only a few number of cases have been reported. In this report, we describe a case of extraskeletal Ewing sarcoma of the larynx with thyroid cartilage destruction. Laryngoscope, 2024.

National Trends in Inpatient Hospital Outcomes of Children with Osteogenesis Imperfecta and the Importance of Extra-skeletal Manifestations: A Kids' Inpatient Database Study.

OBJECTIVE: To investigate the extent of extra-skeletal manifestations along with inpatient outcomes and complications associated with osteogenesis imperfecta (OI). STUDY DESIGN: This cross-sectional study utilized the Kids' Inpatient Database (KID) as part of the Healthcare Cost and Utilization Project (HCUP) to investigate inpatient hospital outcomes and management in patients with OI from 1997 through 2016. Data regarding hospital characteristics, cost of treatment, inpatient outcomes, and procedures were collected and analyzed. RESULTS: There were 7,291 admissions that listed OI as a diagnosis in the KID database from 1997 through 2016. Unexpectedly, over one third of all admissions in these children with OI presented with an extra-skeletal manifestation. The rate of major complications was 3.85%. The rate of minor complications was 19.4%, most commonly respiratory problems. Mortality rate was 18.2 % in the neonatal period and 1.0% in all other admissions. Total charges of hospital stay increased over the years. CONCLUSION: We identified a striking prevalence of extra-skeletal manifestations in OI along with inpatient outcomes and complications associated with OI, of which respiratory complications were predominant. We observed a significant financial burden for patients with OI and identified additional risks for financial crisis, in addition to disparities in care identified among socioeconomic groups. These data contribute to a more holistic understanding of OI from diagnosis to management.

Case Series: Computed Tomography Features of Extraskeletal Osteosarcoma in Six Dogs.

The objective of the present case series was to investigate the various computed tomography findings of six dogs diagnosed with extraskeletal osteosarcoma (exOSA) at several locations. Among the tumors evaluated, four were subcutaneous, one was mammary, and one involved the intestinal tract. Intralesional mineralization was observed in all six dogs. Most of the tumors were moderately calcified, exhibited amorphous mineralization, and were heterogeneous on post-contrast imaging. Three of the tumors were peripherally enhanced, and regional lymphadenopathy was identified in two of the dogs, which was presumed to be metastatic. No lymph node calcification was reported. Although the presence of intralesional mineralization is not a pathognomonic finding, it was consistently identified in the present case series. Therefore, exOSA should be considered in the differential diagnosis when mineralization occurs in a mass unrelated to osseous structures.

Rare Presentation of Primary Pleural Ewing Sarcoma With a Mass Extending Into the Right Ventricle: A Case Report.

Primary pleural Ewing sarcoma is a rare type of Ewing sarcoma with only a few case reports identified in the literature. The condition is challenging to diagnose with deceiving symptoms and wide differential diagnosis. Diagnosis is confirmed with a combination of radiological and pathological assessment. Treatment is similar to other types of Ewing sarcoma with chemotherapy and surgery being the mainstay of treatment. We identify an unusual presentation of pleural Ewing sarcoma in a 31-year-old male with a mass extending into the right ventricular outlet causing rapid deterioration of the patient.

The Non-conventional Effects of Hypovitaminosis D: A Pandemic Even in Sunlight-Rich Countries.

The synthesis and absorption of Vitamin D play crucial roles in numerous bodily functions, yet deficiencies persist due to factors like insufficient sunlight exposure and dietary inadequacy. Research underscores the significance of lifestyle elements such as diet, sun exposure, and physical activity in maintaining optimal Vitamin D levels. Strategies aimed at tackling deficiencies emphasize supplementation alongside lifestyle adjustments, especially in regions with abundant sunlight like the Middle East and North Africa (MENA). Despite the abundance of sunshine in the Arab world, there remains a prevalent issue of Vitamin D deficiency. This problem arises from various factors, including cultural practices such as traditional clothing covering most skin areas, which limit sun exposure, and environmental factors like air pollution that reduce UV penetration. Dietary habits and lifestyle choices also contribute to this deficiency. Dealing with the ongoing pandemic requires a focused effort to enhance awareness. While some individuals may recognize common diseases caused by Vitamin D deficiency, such as rickets and osteomalacia, many remain unaware of the broader health risks associated with the condition, including non-skeletal manifestations. Additionally, there is a lack of understanding regarding the numerous hidden benefits of this hormone. Therefore, prioritizing educational initiatives that delve into these aspects is essential to effectively combat the current health crisis. This literature review aims to report both skeletal and extraskeletal consequences of hypovitaminosis and briefly discuss the cause of paradoxical vitamin D deficiency in sunny regions like the MENA. This was done by reviewing pertinent articles published between January 2000 and January 2024, sourced from databases such as PubMed, UpToDate, Scopus, and CINAHL, focusing exclusively on English language literature and using keywords such as "Vitamin D deficiency" and "Extraskeletal manifestations."

Surgical Resection of the Liver Mass with Impending Rupture: Primary Osteosarcoma of Liver-a Histological Surprise and Literature Review.

Osteosarcomas occurring in the extraskeletal system are known as extraskeletal osteosarcomas (ESOS). They are rare, highly malignant tumors, associated with poor prognosis Di et al. World J Clin Cases 11(3):662-668 (2023). This is a case report of a gentleman nearing 60s with a liver mass with impending rupture. He underwent resection of the liver mass and was diagnosed to have with ESOS. He underwent a right hepatectomy on an urgent basis. He had an uneventful postoperative recovery. The histopathology report showed a poorly differentiated malignant neoplasm consistent with osteosarcoma. The patient is doing well 75 days after discharge and currently receiving adjuvant chemotherapy with ifosfamide, adriamycin, and cisplatin. We have also done a comprehensive literature review of this rare tumor. It is an elusive disease that is difficult to diagnose radiologically. The treatment includes a combination of surgery and adjuvant treatment.

Extraskeletal Ewing's sarcoma presenting as a mediastinal mass with vena cava superior syndrome: A rare case report.

INTRODUCTION: Extraskeletal Ewing's Sarcoma is a rare entity of sarcoma that develops rapidly within soft tissue in any anatomic region, and the symptoms depend on its location. CASE PRESENTATION: The X-ray examination of a 28-year-old man with shortness of breath, cough, weight loss, and chest pain showed malignant round cell, in which confirmed by immunohistochemical examination. The examination indicated positive Vimentin findings in the cytoplasm and positive FLI-1 in the nuclei of the tumour cells. The diagnosis was consistent with extraskeletal Ewing's sarcoma. The patient submitted to a chest conference and received radiotherapy related to SVCS before debulking surgery. DISCUSSION: The diagnostic challenges associated with Ewing's sarcoma may arise due to its diverse histological spectrum. Further examination is required in order to distinguish Ewing's sarcoma from other tumours, as its radiological specificity is limited. A multimodal approach for treatment and therapy is necessary to highlight the specific requirements of the patient's condition. CONCLUSION: Imaging modalities including X-rays and thoracic CT scans, supported by histopathological examination and immunohistochemistry, are essential for accurately diagnosing Extraskeletal Ewing's sarcoma. A multimodal approach may be considered as the best treatment for the patient with mediastinal Ewing's sarcoma.

Extraskeletal Ewing's sarcoma of supraglottis: A rare case report.

Ewing's Sarcoma family of tumors is a group of small round tumor cells. Ewing's sarcoma majority occurs in bone, accounts about 10 % of primary bone tumors. Extraskeletal Ewing's sarcoma (ESS) is unusual and commonly seen in trunk, paravertebral, and chest wall region. It is rarely seen in head and neck region, accounting to 2-3 %. In head and neck region, ESS is seen in nasal or oral cavities, sinuses. EES originating in the larynx is very rare. Here, we report a 22 years old female having the complaints of change in voice and noisy breathing who was diagnosed as a case of EES of supraglottis. As the disease progressed during the time of diagnosis, she had to undergo emergency tracheostomy. The disease was inoperable so she received neoadjuvant chemotherapy followed by radiation followed by adjuvant chemotherapy. At present she is symptomatically better. The aim of this report is to put forward the rare site of Ewing's Sarcoma and highlighting the early diagnosis in suspected case with IHC, providing effective multimodality treatment.

Penile Osteosarcoma: A Rare Extraosseous Site.

Primary penile extraosseous osteosarcoma (EOS) ranks the most uncommon amongst the differential penile masses, with only nine cases reported so far. In this report, we share the management of a 67-year-old Hispanic male who presented with a painful mass over his distal penile shaft and glans for the last two months. After initial imaging and complete blood investigations, he underwent partial penectomy. Histology revealed high-grade sarcoma, with osteoid production, favoring high-grade extra-skeletal osteosarcoma, with tumor necrosis involving approximately 5% of the tumor volume. The patient had bilateral palpable inguinal lymphadenopathy, which was seen even on a pre-op CT scan. The patient thus underwent bilateral robotic superficial and deep inguinal standard template lymph node dissection three weeks after his partial penectomy. His pathology was negative for malignancy in all examined lymph nodes. At his last follow-up, five months post his primary surgery, he had been doing well without concerns for recurrence.

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues. Thus, OI disease-causing variants result not only in skeletal fragility, decreased bone mineral density (BMD), kyphoscoliosis, and short stature, but can also result in hearing loss, dentinogenesis imperfecta, blue gray sclera, cardiopulmonary abnormalities, and muscle weakness. The extensive genetic and clinical heterogeneity in OI has necessitated the generation of multiple mouse models, the growing awareness of non-skeletal organ and tissue involvement, and OI being more broadly recognized as a type I collagenopathy.This has driven the investigation of mutation-specific skeletal and extra-skeletal manifestations and broadened the search of potential mechanistic therapeutic strategies. The purpose of this review is to outline several of the extra-skeletal manifestations that have recently been characterized through the use of genetically and phenotypically heterogeneous mouse models of osteogenesis imperfecta, demonstrating the significant potential impact of OI disease-causing variants as a collagenopathy (affecting multiple organ systems and tissues), and its implications to overall health.

Unveiling the Unlikely: Extraskeletal Ewing Sarcoma Masquerading as Gastrointestinal Bleeding.

While Ewing sarcoma is traditionally a malignant tumor of bone, it may uncommonly present extra-skeletally, leading to an array of puzzling presentations depending on the tissue involved. Here, we describe the case of a 66-year-old man who presented to the primary care office for evaluation of intermittent melena. He ultimately underwent capsule endoscopy and developed a secondary small bowel obstruction, unveiling his neoplasm. The tumor was then resected and managed with surveillance only, and the patient remains without evidence of disease after four years of follow-up.

Ewing Sarcoma of the Vagina: A Rare Clinical Entity.

Ewing sarcoma (EwS), a malignancy primarily affecting adolescents and young adults, encompasses various types such as bone, extraskeletal, chest wall, and soft tissue-based tumors, all of which share a common genetic origin. A small portion of them are extraosseous, impacting diverse anatomical sites. Characterized by a specific translocation, this rare cancer rarely involves the vagina, with very few documented cases. This report details the unique case of a middle-aged woman diagnosed with extraosseous vaginal EwS, a rarity in this age group and gender. With no established guidelines, a multidisciplinary approach is crucial, emphasizing the need for further case reporting to enhance understanding and management strategies.

CHRNA6 RNA In Situ Hybridization Is a Useful Tool for the Diagnosis of Extraskeletal Myxoid Chondrosarcoma.

Extraskeletal myxoid chondrosarcoma (EMC) is an uncommon mesenchymal neoplasm characteristically composed of uniform-appearing round to spindle-shaped cells with eosinophilic cytoplasm and abundant myxoid extracellular matrix. Although the majority of cases harbor a pathognomonic t(9;22) translocation that fuses EWSR1 with the orphan nuclear receptor NR4A3, there are less common variants that partner NR4A3 with TAF15, TCF12, or TFG. By immunohistochemistry, EMC has features of both cartilaginous and neuroendocrine differentiation, as evidenced by inconsistent expression of S100 protein and synaptophysin or INSM1, respectively, in a subset of cases. Given the limitations of available immunohistochemical stains for the diagnosis of EMC, we analyzed genome-wide gene expression microarray data to identify candidate biomarkers based on differential expression in EMC in comparison with other mesenchymal neoplasms. This analysis pointed to CHRNA6 as the gene with the highest relative expression in EMC (96-fold; P = 8.2 × 10-26) and the only gene with >50-fold increased expression in EMC compared with other tumors. Using RNA chromogenic in situ hybridization, we observed strong and diffuse expression of CHRNA6 in 25 cases of EMC, including both EWSR1-rearranged and TAF15-rearranged variants. All examined cases of histologic mimics were negative for CHRNA6 overexpression; however, limited CHRNA6 expression, not reaching a threshold of >5 puncta or 1 aggregate of chromogen in >25% of cells, was observed in 69 of 685 mimics (10.1%), spanning an array of mesenchymal tumors. Taken together, these findings suggest that, with careful interpretation and the use of appropriate thresholds, CHRNA6 RNA chromogenic in situ hybridization is a potentially useful ancillary histologic tool for the diagnosis of EMC.

Extraskeletal Ewing Sarcoma: A Case Report.

Ewing sarcoma is one of the most common primary bone tumors arising from neuroectodermal cells mainly presenting in the younger population. Instances of this highly malignant tumor manifesting outside of the bone and outside of the typical age range create an unfamiliar clinical scenario. In this report, we present a rare extraskeletal Ewing sarcoma in a 42-year-old woman with a subcutaneous soft tissue mass in the posterior chest displaying a positive EWSR1 gene rearrangement via fluorescence in situ hybridization. The patient is currently on a chemotherapy regimen showing favorable response to the tumor size despite additional complications. This overall presentation of Ewing sarcoma allows further understanding of the malignancy and fosters better care for future cases.

Extraskeletal Myxoid Chondrosarcoma of Floor of Mouth-A Rare Case Report and Review of Literature.

Introduction: Chondrosarcomas are rare malignancies of the cartilage and myxoid chondrosarcoma is its variant which commonly occurs in soft tissue of extremities. Extraskeletal chondrosarcoma is a rare malignant neoplasm of bone or soft tissue origin and is characterized by the presence of spindle cells admixed with well differentiated cartilage or chondroid stroma. They are mostly radioresistant tumours and surgical resections with adequate margins is considered as the ideal treatment modality with adjuvant radiotherapy in high grade tumours and add on chemotherapy, in case of presence of poor prognostic factors. Case Report: A 51-year-old diabetic, hypertensive female patient presented to our outpatient department with difficulty in chewing food for a duration of 6 months. On clinical examination, she had an ulceroproliferative growth involving right lower alveolus and floor of mouth. MRI face and neck with contrast showed a 4.1 × 2.9 × 4.5 cm lesion involving right lower alveolus extending to floor of mouth. Biopsy showed features of extraskeletal myxoid chondrosarcoma. She was planned for upfront surgery (Right composite resection with modified radical neck dissection with free fibula flap). Patient was stable post-surgery and was discharged in stable condition. Final histopathology report was high grade myxoid chondrosarcoma. The case was presented in tumour board and the patient was planned for adjuvant radiotherapy. She has been on regular follow up for the past 2 years and shows no signs of recurrence. Conclusion: Extraskeletal myxoid chondrosarcoma of oral cavity is a rare entity and very few cases are reported. It is a malignant neoplasm which is diagnosed with the help of immunohistochemistry. Surgery is the ideal modality of treatment accompanied by adjuvant radiotherapy in cases of high-grade tumours.

Primary extraskeletal intradural Ewing sarcoma with acute hemorrhage: a case report and review of the literature.

BACKGROUND: Spinal cord tumors present a challenge in diagnosis and treatment due to their varied histopathological characteristics. While Ewing sarcoma is a rare malignant tumor typically originating from skeletal bone, cases of primary intradural extraskeletal Ewing sarcoma are exceptionally rare. The similarity of its presentation to other spinal tumors further complicates its identification and management. CASE PRESENTATION: We report a case of a 58-year-old Palestinian male with intradural extraskeletal lumbar Ewing sarcoma. The patient initially presented with lower back pain and bilateral S1 radiculopathy, with more severe symptoms on the left side. Magnetic resonance imaging revealed a 7 cm oval-shaped mass with homogeneous contrast enhancement, obstructing the spinal canal from L3/L4 to L5/S1 levels. Initially, a myxopapillary ependymoma was suspected, but the patient's sensory and motor functions suddenly deteriorated during hospitalization. Repeat magnetic resonance imaging indicated heterogeneous contrast enhancement, indicating acute intratumoral hemorrhage. Consequently, the patient underwent emergent L3-L5 laminotomy, with successful gross total resection of the tumor. Histopathological and immunohistochemical analyses confirmed the diagnosis of intradural extraskeletal Ewing sarcoma. Adjuvant therapy was administered to minimize the risk of local recurrence or distant metastasis. A systematic review of relevant literature, along with retrospective analysis of medical records, operative reports, radiological studies, and histopathological findings of similar cases, was also conducted. CONCLUSIONS: Intradural extraskeletal Ewing sarcoma is an infrequently encountered condition in adult patients, emphasizing the importance of considering it in the differential diagnosis of spinal tumors. Surgeons must possess a comprehensive understanding of this rare entity to ensure accurate staging and optimal management, particularly in the early stages when prompt intervention may improve prognosis.

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline "hotspot" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WT DICER1 allele.